Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

Clin Immunol. 2016 May:166-167:100-2. doi: 10.1016/j.clim.2016.03.012. Epub 2016 Apr 6.

Abstract

ORAI1 is the pore-forming subunit of the calcium release-activated calcium channel responsible for calcium influx into cells triggered by endoplasmic reticulum store depletion. We report here a patient with severe combined immunodeficiency and absent store-operated calcium entry due to a novel mutation in ORAI1 that results in the expression of a C-terminally truncated protein that abolishes ORAI1 binding to STIM1.

Keywords: ORAI1; Severe combined immunodeficiency; Whole exome sequencing.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Base Sequence
  • Exome / genetics
  • Fatal Outcome
  • Female
  • HEK293 Cells
  • Homozygote
  • Humans
  • Infant
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • ORAI1 Protein / genetics*
  • ORAI1 Protein / metabolism
  • Protein Binding / genetics
  • Sequence Analysis, DNA
  • Sequence Deletion
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / metabolism
  • Stromal Interaction Molecule 1 / genetics*
  • Stromal Interaction Molecule 1 / metabolism

Substances

  • Neoplasm Proteins
  • ORAI1 Protein
  • ORAI1 protein, human
  • STIM1 protein, human
  • Stromal Interaction Molecule 1